18P MONOSOMY WITH MIDLINE DEFECTS AND A DE-NOVO SATELLITE IDENTIFIED BY FISH

Authors
TAINE L GOIZET C WEN ZQ CHATEIL JF BATTIN J SAURA R LACOMBE D
Citation
L. Taine et al., 18P MONOSOMY WITH MIDLINE DEFECTS AND A DE-NOVO SATELLITE IDENTIFIED BY FISH, Annales de genetique, 40(3), 1997, pp. 158-163
Citations number
26
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
40
Issue
3
Year of publication
1997
Pages
158 - 163
Database
ISI
SICI code
0003-3995(1997)40:3<158:1MWMDA>2.0.ZU;2-Y
Abstract
We report a girl with an 18p deletion and showing a total GH deficienc y, a single central maxillary incisor, and a pituitary dysplasis, This suggests that del(18)(p) could be involved in pituitary dysplasia, We review the association between midline developmental defects and chro mosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.